rs10957875

Variant names:

• chr8-77910736-G-A
• rs10957875

Your query was ambiguous. Multiple possible variants found:

• chr8-77910736-G-A
• chr8-77910736-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.437 in 151,348 control chromosomes in the GnomAD database, including 14,969 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.44 (14969 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0130

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.497 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.437 AC: 66163 AN: 151230 Hom.: 14955 Cov.: 31

Gnomad AFR AF: 0.343

Gnomad AMI AF: 0.369

Gnomad AMR AF: 0.498

Gnomad ASJ AF: 0.475

Gnomad EAS AF: 0.512

Gnomad SAS AF: 0.456

Gnomad FIN AF: 0.471

Gnomad MID AF: 0.478

Gnomad NFE AF: 0.468

Gnomad OTH AF: 0.458

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.437 AC: 66212 AN: 151348 Hom.: 14969 Cov.: 31 AF XY: 0.441 AC XY: 32585 AN XY: 73940

Gnomad4 AFR AF: 0.342

Gnomad4 AMR AF: 0.498

Gnomad4 ASJ AF: 0.475

Gnomad4 EAS AF: 0.513

Gnomad4 SAS AF: 0.458

Gnomad4 FIN AF: 0.471

Gnomad4 NFE AF: 0.468

Gnomad4 OTH AF: 0.459

Alfa AF: 0.467 Hom.: 19314

Bravo AF: 0.438

Asia WGS AF: 0.453 AC: 1573 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	6.4
DANN	Benign	0.63

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs10957875; hg19: chr8-78822971;